All Phenotypes Glra1<m1Cpai> MGI Mouse

Phenotypes associated with this allele

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Glra1^m1Cpai/Glra1^m1Cpai	involves: 129 * C57BL/6	MGI:6471172
ht2	Glra1^m1Cpai/Glra1^spd	involves: 129 * A/HeJ * C57BL/6	MGI:6471174
ht3	Glra1^m1Cpai/Glra1^spd-ot	involves: 129 * C57BL/6 * C57BL/6J	MGI:6471175

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

mortality/aging

premature death ( J:248717 )

• mice die between 3 and 6 weeks of age

growth/size/body

decreased body size ( J:248717 )

behavior/neurological

abnormal motor capabilities/coordination/movement ( J:248717 )

• mice begin to develop a severe motor defect by 2 weeks of age

impaired righting response ( J:248717 )

• mice show prolonged righting time at P22-P28

limb grasping ( J:248717 )

• mice show both forelimb and hindlimb clasping when picked up by the tail

tremors ( J:248717 )

• during episodes of tremor, mice show a hunched, stiff posture

impaired coordination ( J:248717 )

• mice perform very poorly on the rotarod

• treatment with diazepam improves performance on the rotarod

abnormal tail movements ( J:248717 )

• twitchy tail

muscle

muscle spasm ( J:248717 )

nervous system

abnormal CNS synaptic transmission ( J:248717 )

• mice exhibit impaired glycinergic synaptic transmission in PreBotC neurons

abnormal inhibitory postsynaptic currents ( J:248717 )

• when strychnine-sensitive glycinergic inhibitory postsynaptic currents (IPSCs) are evoked at different stimulus intensities in PreBotC neurons at P18-P24, the input-output relationship is flattened for all stimulus intensities

• brainstem nuclei show reduced current amplitudes and lower frequencies of spontaneous IPSCs

abnormal miniature inhibitory postsynaptic currents ( J:248717 )

• mIPSC recordings from PreBotC neurons show lower frequency, smaller amplitudes, and accelerated decay

• however, GABAergic spIPSCs do not differ in frequency and no differences in the number of motoneurons is seen in the lumbar spinal cord

decreased miniature inhibitory postsynaptic current amplitude ( J:248717 )

• in PreBotC neurons

decreased miniature inhibitory postsynaptic current frequency ( J:248717 )

• in PreBotC neurons

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
hyperekplexia		DOID:0060695	OMIM:PS149400	J:248717

Allelic Composition	Glra1^m1Cpai/Glra1^spd
Genetic Background	involves: 129 * A/HeJ * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Glra1^m1Cpai mutation (0 available); any Glra1 mutation (30 available)
Glra1^spd mutation (1 available); any Glra1 mutation (30 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

behavior/neurological

abnormal motor capabilities/coordination/movement ( J:248717 )

• similar mild neuromotor deficits upon tactile or acoustic stimuli as homozygous Glra1^m1Cpai mice

Allelic Composition	Glra1^m1Cpai/Glra1^spd-ot
Genetic Background	involves: 129 * C57BL/6 * C57BL/6J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Glra1^m1Cpai mutation (0 available); any Glra1 mutation (30 available)
Glra1^spd-ot mutation (1 available); any Glra1 mutation (30 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

mortality/aging

preweaning lethality, complete penetrance ( J:248717 )

• mice die 4 weeks after birth

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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